부산대학교 도서관

Loeber, JG; Platis, D; Zetterström, RH; Almashanu, S; Boemer, F; Bonham, JR; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Dimitrov, D; Fingerhut, R; Franzson, L; Groselj, U; Hougaard, D; Knapkova, M; Kocova, M; Kotori, V; Kozich, V; Kremezna, A; Kurkijärvi, R; La Marca, G; Mikelsaar, R; Milenkovic, T; Mitkin, V; Moldovanu, F; Ceglarek, U; O'Grady, L; Oltarzewski, M; Pettersen, RD; Ramadza, D; Salimbayeva, D; Samardzic, M; Shamsiddinova, M; Songailiené, J; Szatmari, I; Tabatadze, N; Tezel, B; Toromanovic, A; Tovmasyan, I; Usurelu, N; Vevere, P; Vilarinho, L; Vogazianos, M; Yahyaoui, R; Zeyda, M; Schielen, PCJI

International journal of neonatal screening. 7(1)

Manzoni E; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.; Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France.; Schlieben LD; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany.; Hirano M; H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.; Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94270, France.; Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.; Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.; Barić I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.; Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.; Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Mayr J; University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.; La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy.; Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy.; Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany.; Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy.; Bris C; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France.; Cano A; Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France.; Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy.; Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.; Laborde N; Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France.; Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy.; Lenz D; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy.; Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy.; Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy.; Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy.; Nesbitt V; Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK.; Procopio E; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Rouzier C; Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France.; Staufner C; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.; Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Tal G; Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Ticci C; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Cordelli DM; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.; Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy.; Procaccio V; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France.; Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany.; Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

M. E. Rubio-Gozalbo; M. Haskovic; A. M. Bosch; B. Burnyte; A. I. Coelho; D. Cassiman; M. L. Couce; C. Dawson; D. Demirbas; T. Derks; F. Eyskens; M. T. Forga; S. Grunewald; J. Häberle; M. Hochuli; A. Hubert; H. H. Huidekoper; P. Janeiro; J. Kotzka; I. Knerr; P. Labrune; Y. E. Landau; J. G. Langendonk; D. Möslinger; D. Müller-Wieland; E. Murphy; K. Õunap; D. Ramadza; I. A. Rivera; S. Scholl-Buergi; K. M. Stepien; A. Thijs; C. Tran; R. Vara; G. Visser; R. Vos; M. de Vries; S. E. Waisbren; M. M. Welsink-Karssies; S. B. Wortmann; M. Gautschi; E. P. Treacy; G. T. Berry

Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

Lenz, D.; Bianzano, A.; Fichtner, A.; Garbade, S.F.; Kolker, S.; Peters, B.; Hoffmann, G.F.; Staufner, C.; Schlieben, L.D.; Smirnov, D.; Kopajtich, R.; Berutti, R.; Brugger, M.; Brunet, T.; Mayerhanser, K.; Pavlov, M.; Wagner, M.; Meitinger, T.; Prokisch, H.; Shimura, M.; Murayama, K.; Adam, R.; Aldrian, D.; Vogel, G.-F.; Baric, I.; Petkovic Ramadza, D.; Baumann, U.; Junge, N.; Bozbulut, N.E.; Dalgic, B.; Bufler, P.; Henning, S.; Burnyte, B.; Urbonas, V.; Calvo, P.L.; Crushell, E.; Das, A.M.; Dezsofi, A.; Distelmaier, F.; Freisinger, P.; Gaspar, H.; Goujon, L.; Pasquier, L.; Hadzic, N.; Hartleif, S.; Sturm, E.; Hegen, B.; Jankofsky, M.; Santer, R.; Hempel, M.; Hoerning, A.; Kaspar, S.; Houwen, R.; Van Der Woerd, W.; Hughes, J.; Iorio, R.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Kanavaki, I.; Kansu, A.; Kirsaclioglu, C.T.; Kuloglu, Z.; Kathemann, S.; Lainka, E.; Pilic, D.; Kelly, D.; Knoppke, B.; Vermehren, J.; Kohl, M.; Kolbel, H.; Konstantopoulou, V.; Krylova, T.; Semenova, N.; Zakharova, E.; Kuster, A.; Laass, M.W.; Lurz, E.; Mandel, H.; Mayr, J.A.; Wortmann, S.B.; McKiernan, P.; Vockley, J.; McClean, P.; McLin, V.; Rajwal, S.; Rock, N.; Mention, K.; Muller, H.; Pechatnikova, N.; Roetig, A.; Schenk, W.; Sokollik, C.; Taylor, R.W.; Tschiedel, E.; Urreizti, R.

In: Hepatology. (Hepatology, May 2024, 79(5):1075-1087)

Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Häberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Möslinger, D.; Müller-Wieland, D.; Murphy, E.; Õunap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T.

Orphanet Journal of Rare Diseases. 14(1)

J. Gerard Loeber; Dimitris Platis; Rolf H. Zetterström; Shlomo Almashanu; François Boemer; James R. Bonham; Patricia Borde; Ian Brincat; David Cheillan; Eugenie Dekkers; Dobry Dimitrov; Ralph Fingerhut; Leifur Franzson; Urh Groselj; David Hougaard; Maria Knapkova; Mirjana Kocova; Vjosa Kotori; Viktor Kozich; Anastasiia Kremezna; Riikka Kurkijärvi; Giancarlo La Marca; Ruth Mikelsaar; Tatjana Milenkovic; Vyacheslav Mitkin; Florentina Moldovanu; Uta Ceglarek; Loretta O'Grady; Mariusz Oltarzewski; Rolf D. Pettersen; Danijela Ramadza; Damilya Salimbayeva; Mira Samardzic; Markhabo Shamsiddinova; Jurgita Songailiené; Ildiko Szatmari; Nazi Tabatadze; Basak Tezel; Alma Toromanovic; Irina Tovmasyan; Natalia Usurelu; Parsla Vevere; Laura Vilarinho; Marios Vogazianos; Raquel Yahyaoui; Maximilian Zeyda; Peter C.J.I. Schielen

International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)

Heard, J. M.; Vrinten, C.; Schlander, M.; Bellettato, C. M.; van Lingen, C.; Scarpa, M.; Matthijs, G.; Nassogne, M. C.; Debray, F. G.; Roland, D.; Chamova, T.; Kozich, V.; Pavel, J.; Zenker, M.; Lampe, C.; Das, A. M.; Hennermann, J.; Kolker, S.; Weinhold, N.; Mohnike, K.; Gruenert, S.; Lund, A. M.; Morales-Conejo, M.; del Toro-Riera, M.; Aldamiz-Echevarria, L.; Garcia-Silva, M. T.; Schiff, M.; Gouya, L.; Labrune, P.; de Lonlay, P.; Belmatoug, N.; Germain, D. P.; Cano, A.; Dobbelaere, D.; Jones, S.; Dawson, C.; Deegan, P.; Santra, S.; Vijay, S.; Ramadza, D. P.; Baric, I.; Aigman, T.; Pflieger, G.; Szakszon, K.; Kaposta, R.; Gasperini, S.; Burlina, A.; Parenti, G.; Strisciuglio, P.; Ceccarini, G.; Federico, A.; Simonati, A.; Tumiene, B.; Huidekoper, H.; van Spronsen, F.; Bosch, A.; Rubio-Gozalbo, M. E.; Visser, G.; Tangeraas, T.; Aarsand, A.; Kiec-Wilk, B.; Gaspar, Amsm; Quelhas, D.; Leao-Teles, E.; Azevedo, O.; Silva, Emfr; Matos, Lmdfd; Martins, E.; Lajic, S.; Darin, Niklas, 1964; Groselj, U.; Tansek, M. Z.

Orphanet Journal of Rare Diseases. 15(1)

Baric, I; Staufner, C; Augoustides-Savvopoulou, P; Chien, YH; Dobbelaere, D; Grunert, SC; Opladen, T; Ramadza, DP; Rakic, B; Wedell, A; Blom, HJ

Journal of inherited metabolic disease. 40(1):5-20

Mütze, U.; Gleich, F.; Garbade, S.F.; Zielonka, M.; Kölker, S.; Plisson, C.; Aldámiz-Echevarría, L.; Arrieta, F.; Ballhausen, D.; Petković Ramadža, D.; Baumgartner, M.R.; Huemer, M.; Cano, A.; García Jiménez, M.C.; Dionisi-Vici, C.; Ješina, P.; Kožich, V.; Blom, H.J.; Couce, M.L.; Meavilla Olivas, S.; Mention, K.; Mochel, F.; Morris, A.A.M.; Mundy, H.; Redonnet-Vernhet, I.; Santra, S.; Schiff, M.; Servais, A.; Vitoria, I.

In: Journal of Inherited Metabolic Disease. (Journal of Inherited Metabolic Disease, July 2022, 45(4):719-733)

Petković Ramadža, D.; Barić, I.; Žarković, K.; Čavka, M.; Prutki, M.; Kuhtić, I.; Lochmüller, H.; Kovač, I.

In: Frontiers in Pediatrics. (Frontiers in Pediatrics, 8 April 2022, 10)